Seeking Official Diagnosis

[jenrn]

Hello everyone. I am fairly new to this forum and I am looking for opinions. I went gluten free in Oct 2007 after many years of GI issues. I had absolutely no appetite and felt nauseous all the time. I had testing for celiac disease in April 2007 and even had a biopsy done- everything came back negative. I forgot about it for a few months until I started reading that it is possible for the tests to come back negative even if you really do have celiac disease. So I did the enterolab testing which was positive for gluten sensitivity and I discovered that I carry a double copy of the DQ2 gene.

Once I found out I had two genes I decided to try the gluten free diet. Well it has been amazing. I am not nauseous anymore and I actually feel hungry. I had been slowly losing weight (unintentionally) for the last few years and couldn't figure out why- now I have finally gained a few pounds and am almost back to a normal weight. It has been amazing- I literally used to wake up in the middle of the night feeling so sick I would be up for hours waiting for the feeling to pass. That hasn't happened since I went gluten free and it is so nice!

So here is my question- am I nuts to want an official diagnosis? Since I went gluten free I have found out that I have Hashimoto's thyroid disease. I also just had a bone scan done and found out I have pretty bad osteopenia- I am only 28 years old! All of these signs scream celiac disease to me. Everything of course except for the official tests accepted by the medical community. And I am a part of the medical community- I am a nurse practitioner and I think that is partly why I want an official diagnosis. As a group we are just trained to want the lab results that support a diagnosis. It isn't necessarily always a good thing to think that way but it is hard not to in this field. But I really do not ever want to go back on gluten again.

I have been thinking about going to see Dr. Green at Columbia (I live in NY) but don't want to waste my time (or money) if he is just going to brush me off and tell me I have to go back on gluten. Has anyone ever seen him? Well if you have read this far I thank you and I welcome any insight or opinions.

Jen

[happygirl]

Any experienced doctor will tell you, Dr. Green or others, for testing to be accurate, that you need to be consuming gluten for an extended period of time.

Which blood tests were run?

Did the doctor performing the biopsy take multiple biopsies in multiple locations?

You may not have had the full panel run, and your dr. may not have taken enough biopsies. As you know, Celiac is a patchy disease. If the testing wasn't done properly, your "negative" tests aren't as indicative.

You may have Celiac, or you may have a non-Celiac gluten problem. If the latter is your case, no amount of eating gluten and testing will make you test positive for Celiac.

You may be able to go to a doctor, explain your dietary response and your genes, and they will label you as a Celiac/gluten intolerant.

Not sure which you are looking for.....I wish there was a simple answer!

Best of luck!

[Gemini]

Hello everyone. I am fairly new to this forum and I am looking for opinions. I went gluten free in Oct 2007 after many years of GI issues. I had absolutely no appetite and felt nauseous all the time. I had testing for celiac disease in April 2007 and even had a biopsy done- everything came back negative. I forgot about it for a few months until I started reading that it is possible for the tests to come back negative even if you really do have celiac disease. So I did the enterolab testing which was positive for gluten sensitivity and I discovered that I carry a double copy of the DQ2 gene.

Once I found out I had two genes I decided to try the gluten free diet. Well it has been amazing. I am not nauseous anymore and I actually feel hungry. I had been slowly losing weight (unintentionally) for the last few years and couldn't figure out why- now I have finally gained a few pounds and am almost back to a normal weight. It has been amazing- I literally used to wake up in the middle of the night feeling so sick I would be up for hours waiting for the feeling to pass. That hasn't happened since I went gluten free and it is so nice!

So here is my question- am I nuts to want an official diagnosis? Since I went gluten free I have found out that I have Hashimoto's thyroid disease. I also just had a bone scan done and found out I have pretty bad osteopenia- I am only 28 years old! All of these signs scream celiac disease to me. Everything of course except for the official tests accepted by the medical community. And I am a part of the medical community- I am a nurse practitioner and I think that is partly why I want an official diagnosis. As a group we are just trained to want the lab results that support a diagnosis. It isn't necessarily always a good thing to think that way but it is hard not to in this field. But I really do not ever want to go back on gluten again.

I have been thinking about going to see Dr. Green at Columbia (I live in NY) but don't want to waste my time (or money) if he is just going to brush me off and tell me I have to go back on gluten. Has anyone ever seen him? Well if you have read this far I thank you and I welcome any insight or opinions.

Jen

Jen....I have all the problems you mentioned in your post....Hashimoto's, osteopenia, the double DQ2 Celiac genes and I have an official diagnosis. I should clarify....I did the blood work and failed all the tests done, with huge numbers, so I know beyond a shadow of a doubt that I have celiac disease. My response to the gluten-free diet was phenomenal and because I was so sick at the time, I opted out of the biopsy to start the diet. If I hadn't, I would have wound up in the hospital and that idea was not appealing to me.

I would state without any doubt that the reason you tested negative was your age.....you haven't triggered long enough to do the damage that would show up in the testing. I went 20 years with every single, classic Celiac symptom without a diagnosis because it probably took that long before the damage was great enough to show. That, coupled with a clueless medical profession, did my body harm.

The hardest thing that people with chronic disease face is a medical profession that doesn't

look at the whole picture a patient presents with and relies on lab testing that is imperfect.

If you want an "official" diagnosis, you will have to go back to eating gluten, feel horrible while you do, have your bones become more damaged that they already are and your thyroid will be difficult to control because you are ingesting gluten. I only brought mine under control after I went gluten-free.

I know your training tells you to do one thing but your body will suffer greatly if you continue to eat gluten. You know you have it from all of your symptoms and, now, the start of multiple autoimmune diseases. We need people like yourself who may be able to change the way celiac disease is diagnosed!

[Celiconfused]

I don't know if you saw my earlier post, but there has been some confusion in my diagnosis. I'm so glad I am not the only one who is foregoing the biopsy. I felt so awful when I went off my gluten-free diet, I thought "What the hell" I must have it. My confusion was I had a FP doctor tell me I was and a GI doctor tell me he wasn't so sure. But right now I don't really have the money to pay my insurance deductible to have the biopsy done.

I too wanted an "official" diagnosis from somebody. But I actually think it is better for me now to get to feeling better like I had been. And if sticking to a gluten-free diet makes me feel good and I don't have to have the scope done, then I am happy.

Leslie

[Gemini]

I don't know if you saw my earlier post, but there has been some confusion in my diagnosis. I'm so glad I am not the only one who is foregoing the biopsy. I felt so awful when I went off my gluten-free diet, I thought "What the hell" I must have it. My confusion was I had a FP doctor tell me I was and a GI doctor tell me he wasn't so sure. But right now I don't really have the money to pay my insurance deductible to have the biopsy done.

I too wanted an "official" diagnosis from somebody. But I actually think it is better for me now to get to feeling better like I had been. And if sticking to a gluten-free diet makes me feel good and I don't have to have the scope done, then I am happy.

Leslie

GI docs will only diagnose with flattened villi, period. That is such an injustice to those who aren't showing enough damage yet. Would they ask a diabetic to ingest sugar if their blood work was iffy? I realize some will have to undergo a biopsy for peace of mind or to investigate further if their blood work was negative or borderline but for others, like myself, it was not necessary. I was a poster child for celiac disease.....skinny, skinny arms and body, weight at 98 pounds and falling, and all those lovely other symptoms that make life miserable. I even went gluten-free before the blood work and I still failed the tests with high numbers so it didn't take a brain surgeon to figure it out. The clincher came when I started the diet and 3 days later my most severe symptoms started to go away. If you look at the entire picture, you can figure it out. It's great that you are comfortable with your diagnosis because it will save much aggravation and illness down the road.

[Celiconfused]

GI docs will only diagnose with flattened villi, period. That is such an injustice to those who aren't showing enough damage yet. Would they ask a diabetic to ingest sugar if their blood work was iffy? I realize some will have to undergo a biopsy for peace of mind or to investigate further if their blood work was negative or borderline but for others, like myself, it was not necessary. I was a poster child for celiac disease.....skinny, skinny arms and body, weight at 98 pounds and falling, and all those lovely other symptoms that make life miserable. I even went gluten-free before the blood work and I still failed the tests with high numbers so it didn't take a brain surgeon to figure it out. The clincher came when I started the diet and 3 days later my most severe symptoms started to go away. If you look at the entire picture, you can figure it out. It's great that you are comfortable with your diagnosis because it will save much aggravation and illness down the road.

I think the GI doctor has his doubts with me because I am so not the "poster child." I am overweight and do not have skin problems, but mine is mainly in my intestine and horrible bowel movements. I did notice went I went gluten-free that my aches and pains seemed to go away as well. I can't wait to start feeling better again. I wish I never went off the gluten-free for my biopsy that I ended up cancelling!

[jenrn]

Thanks everyone for your input. I guess I am just going to have to accept the fact that I will never have the official diagnosis unless they come up with some other test someday that you can take even if you are gluten free. You are all right though- going back on gluten just to repeat the testing would not be a smart thing to do.

One good thing about being gluten free myself is that I am very aware of testing for celiac disease in my patients. And I agree with all of you- it is still not on the radar for many health care providers. It isn't even mentioned in the main text book I used in grad school for my nurse practitioner degree. And I have started to spread the word as much as I can to my colleagues in the medical field. I think that slowly more people are becoming aware of this common disease.

Jen

[Gemini]

Thanks everyone for your input. I guess I am just going to have to accept the fact that I will never have the official diagnosis unless they come up with some other test someday that you can take even if you are gluten free. You are all right though- going back on gluten just to repeat the testing would not be a smart thing to do.

One good thing about being gluten free myself is that I am very aware of testing for celiac disease in my patients. And I agree with all of you- it is still not on the radar for many health care providers. It isn't even mentioned in the main text book I used in grad school for my nurse practitioner degree. And I have started to spread the word as much as I can to my colleagues in the medical field. I think that slowly more people are becoming aware of this common disease.

Jen

Thanks, Jen.....it's people like yourself that could change the way celiac disease/GS are diagnosed. Keep up the good work!